Similar articles for PMID: 21441247

Year	Number of Results
1995	4
1996	1
1998	2
1999	4
2001	1
2002	2
2003	1
2004	10
2005	1
2006	2
2008	4
2009	1
2010	5
2011	4
2012	6
2013	9
2014	3
2015	5
2016	1
2017	4
2018	2
2019	9
2020	3
2021	4
2022	1
2023	2
2024	0

1

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

Fassio A, Patry L, Congia S, Onofri F, Piton A, Gauthier J, Pozzi D, Messa M, Defranchi E, Fadda M, Corradi A, Baldelli P, Lapointe L, St-Onge J, Meloche C, Mottron L, Valtorta F, Khoa Nguyen D, Rouleau GA, Benfenati F, Cossette P. Fassio A, et al. Hum Mol Genet. 2011 Jun 15;20(12):2297-307. doi: 10.1093/hmg/ddr122. Epub 2011 Mar 25. Hum Mol Genet. 2011. PMID: 21441247

2

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.

Corradi A, Fadda M, Piton A, Patry L, Marte A, Rossi P, Cadieux-Dion M, Gauthier J, Lapointe L, Mottron L, Valtorta F, Rouleau GA, Fassio A, Benfenati F, Cossette P. Corradi A, et al. Hum Mol Genet. 2014 Jan 1;23(1):90-103. doi: 10.1093/hmg/ddt401. Epub 2013 Aug 15. Hum Mol Genet. 2014. PMID: 23956174 Free PMC article.

3

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.

Lignani G, Raimondi A, Ferrea E, Rocchi A, Paonessa F, Cesca F, Orlando M, Tkatch T, Valtorta F, Cossette P, Baldelli P, Benfenati F. Lignani G, et al. Hum Mol Genet. 2013 Jun 1;22(11):2186-99. doi: 10.1093/hmg/ddt071. Epub 2013 Feb 12. Hum Mol Genet. 2013. PMID: 23406870 Free PMC article.

4

A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.

Guarnieri FC, Pozzi D, Raimondi A, Fesce R, Valente MM, Delvecchio VS, Van Esch H, Matteoli M, Benfenati F, D'Adamo P, Valtorta F. Guarnieri FC, et al. Hum Mol Genet. 2017 Dec 1;26(23):4699-4714. doi: 10.1093/hmg/ddx352. Hum Mol Genet. 2017. PMID: 28973667

5

Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.

Giannandrea M, Guarnieri FC, Gehring NH, Monzani E, Benfenati F, Kulozik AE, Valtorta F. Giannandrea M, et al. PLoS One. 2013 Jun 20;8(6):e67724. doi: 10.1371/journal.pone.0067724. Print 2013. PLoS One. 2013. PMID: 23818987 Free PMC article.

6

Autism-related behavioral abnormalities in synapsin knockout mice.

Greco B, Managò F, Tucci V, Kao HT, Valtorta F, Benfenati F. Greco B, et al. Behav Brain Res. 2013 Aug 15;251:65-74. doi: 10.1016/j.bbr.2012.12.015. Epub 2012 Dec 29. Behav Brain Res. 2013. PMID: 23280234 Free PMC article.

7

Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

Garcia CC, Blair HJ, Seager M, Coulthard A, Tennant S, Buddles M, Curtis A, Goodship JA. Garcia CC, et al. J Med Genet. 2004 Mar;41(3):183-6. doi: 10.1136/jmg.2003.013680. J Med Genet. 2004. PMID: 14985377 Free PMC article.

8

X-linked focal epilepsy with reflex bathing seizures: Characterization of a distinct epileptic syndrome.

Nguyen DK, Rouleau I, Sénéchal G, Ansaldo AI, Gravel M, Benfenati F, Cossette P. Nguyen DK, et al. Epilepsia. 2015 Jul;56(7):1098-108. doi: 10.1111/epi.13042. Epub 2015 Jun 19. Epilepsia. 2015. PMID: 26096837 Free article.

9

PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.

Paemka L, Mahajan VB, Skeie JM, Sowers LP, Ehaideb SN, Gonzalez-Alegre P, Sasaoka T, Tao H, Miyagi A, Ueno N, Takao K, Miyakawa T, Wu S, Darbro BW, Ferguson PJ, Pieper AA, Britt JK, Wemmie JA, Rudd DS, Wassink T, El-Shanti H, Mefford HC, Carvill GL, Manak JR, Bassuk AG. Paemka L, et al. PLoS One. 2013 Dec 3;8(12):e80737. doi: 10.1371/journal.pone.0080737. eCollection 2013. PLoS One. 2013. PMID: 24312498 Free PMC article.

10

Functions of synapsins in corticothalamic facilitation: important roles of synapsin I.

Nikolaev M, Heggelund P. Nikolaev M, et al. J Physiol. 2015 Oct 1;593(19):4499-510. doi: 10.1113/JP270553. Epub 2015 Sep 2. J Physiol. 2015. PMID: 26256545 Free PMC article.

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